乌克兰CMT1患者17p11.2染色体区域重排分析。

Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine.

作者信息

Hryshchenko N V, Livshits L A

机构信息

Institute of Molecular Biology and Genetics, NASU, 150 Zabolotnogo str., Kyiv, Ukraine 03680.

出版信息

Tsitol Genet. 2009 Jan-Feb;43(1):36-41.

Abstract

Two intercomplementary methods of 17p11.2 duplication/deletion identification have been elaborated: STR allelic variants analysis and direct PMP22 gene dosage measuring by means of quantitative Real- Time PCR. It has been carried out detection and analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine. It has been registered the high level of de novo cases with 17p11.2-duplication. It has been shown the 17p11.2 chromosome region duplication/deletion association with CMT1A and HNPP clinical phenotypes which may be used in differential diagnosis of this type of CMT polyneuropathy.

摘要

已经阐述了两种相互补充的17p11.2重复/缺失鉴定方法：STR等位基因变异分析和通过定量实时PCR直接测量PMP22基因剂量。对来自乌克兰的CMT1患者进行了17p11.2染色体区域重排的检测和分析。已记录到17p11.2重复的新生病例高水平。已表明17p11.2染色体区域重复/缺失与CMT1A和HNPP临床表型相关，这可用于这种类型的CMT多发性神经病的鉴别诊断。

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